ClinVar Miner

Submissions for variant NM_015681.6(B9D1):c.181C>T (p.Arg61Trp)

gnomAD frequency: 0.01073  dbSNP: rs73980038
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243580 SCV000312575 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000243580 SCV000527240 benign not specified 2016-05-09 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000526652 SCV000634612 benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001124459 SCV001283422 likely benign Meckel syndrome, type 9 2017-04-28 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.
Breakthrough Genomics, Breakthrough Genomics RCV004705104 SCV005212343 likely benign not provided criteria provided, single submitter not provided

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