ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.2377-17C>T

dbSNP: rs1586352662
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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 RCV002188196 SCV002355431 likely benign CHARGE syndrome 2022-10-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498192 SCV002804801 likely benign CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia 2021-12-14 criteria provided, single submitter clinical testing

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