ClinVar Miner

Submissions for variant NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp)

gnomAD frequency: 0.02403  dbSNP: rs7800847
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000154191 SCV000467161 likely benign Premature ovarian failure 5 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV000615871 SCV000729298 benign not specified 2017-06-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000615871 SCV000859081 likely benign not specified 2018-01-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000965062 SCV001112319 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000987991 SCV001137534 benign Premature ovarian failure 1 2019-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000154191 SCV002799283 likely benign Premature ovarian failure 5 2022-02-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000965062 SCV005226876 likely benign not provided criteria provided, single submitter not provided
OMIM RCV000154191 SCV000203839 pathogenic Premature ovarian failure 5 2011-10-01 no assertion criteria provided literature only

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