ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4807C>T (p.Pro1603Ser)

gnomAD frequency: 0.00039  dbSNP: rs144395162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001698384 SCV000534192 benign not provided 2020-10-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318488 SCV000850591 likely benign Inborn genetic diseases 2017-04-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000865874 SCV001006900 benign Developmental and epileptic encephalopathy 94 2024-12-15 criteria provided, single submitter clinical testing

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