ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5039T>C (p.Val1680Ala)

dbSNP: rs746011394
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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 RCV002004650 SCV002236176 benign CHARGE syndrome 2022-12-06 criteria provided, single submitter clinical testing

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