ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.4901A>C (p.Asn1634Thr)

dbSNP: rs761860129
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034134 SCV001197459 benign Developmental and epileptic encephalopathy 94 2024-12-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003393791 SCV004130955 uncertain significance not provided 2023-10-01 criteria provided, single submitter clinical testing

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