ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3030A>G (p.Ile1010Met)

dbSNP: rs1206578296
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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 RCV000634426 SCV000755731 likely benign CHARGE syndrome 2023-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005049624 SCV005681992 uncertain significance CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2024-03-26 criteria provided, single submitter clinical testing

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