ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.861G>A (p.Pro287=)

gnomAD frequency: 0.00001  dbSNP: rs1007919674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000867243 SCV001008446 likely benign CHARGE syndrome 2024-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501265 SCV002809451 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-10-28 criteria provided, single submitter clinical testing

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