ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.867C>A (p.Thr289=)

dbSNP: rs2487272007
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003878014 SCV004675163 likely benign CHARGE syndrome 2023-11-17 criteria provided, single submitter clinical testing

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