ClinVar Miner

Submissions for variant NM_001270.4(CHD1):c.1371A>G (p.Leu457=)

gnomAD frequency: 0.00391  dbSNP: rs116648225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000888697 SCV001032348 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487945 SCV002799910 likely benign Pilarowski-Bjornsson syndrome 2021-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000888697 SCV004159184 benign not provided 2023-04-01 criteria provided, single submitter clinical testing CHD1: BP4, BS1, BS2

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