ClinVar Miner

Submissions for variant NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)

gnomAD frequency: 0.00230  dbSNP: rs76466003
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252402 SCV000306981 likely benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000009304 SCV000457483 likely benign Hirschsprung disease, susceptibility to, 3 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 RCV000252402 SCV000730622 likely benign not specified 2017-09-19 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.
Mendelics RCV000009304 SCV001136829 benign Hirschsprung disease, susceptibility to, 3 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002054428 SCV002405997 benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000009304 SCV002802953 likely benign Hirschsprung disease, susceptibility to, 3 2022-04-09 criteria provided, single submitter clinical testing
OMIM RCV000009304 SCV000029522 risk factor Hirschsprung disease, susceptibility to, 3 1997-07-01 no assertion criteria provided literature only

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