ClinVar Miner

Submissions for variant NM_004821.3(HAND1):c.162G>A (p.Pro54=)

gnomAD frequency: 0.00236  dbSNP: rs138460675
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861743 SCV001002137 benign Hypoplastic left heart syndrome 2024-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003424382 SCV004157882 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing HAND1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003918329 SCV004736323 benign HAND1-related condition 2019-02-22 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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