ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.909C>G (p.Val303=)

gnomAD frequency: 0.00038  dbSNP: rs142420285
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867346 SCV001008559 likely benign not provided 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495272 SCV002794666 likely benign Medulloblastoma; Familial dysautonomia 2021-10-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004027696 SCV003907092 likely benign not specified 2023-02-23 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001274634 SCV001458968 likely benign Familial dysautonomia 2020-09-16 no assertion criteria provided clinical testing

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