ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.509C>T (p.Pro170Leu)

gnomAD frequency: 0.00009  dbSNP: rs369545523
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000800916 SCV000940660 likely benign CHARGE association 2024-01-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003457808 SCV004184724 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing CHD7: BP4

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