ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.1782C>T (p.Ala594=)

gnomAD frequency: 0.00077  dbSNP: rs78732864
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530348 SCV000654412 benign Nephronophthisis 16 2024-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001580518 SCV001817820 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000530348 SCV002810191 likely benign Nephronophthisis 16 2021-08-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001580518 SCV005222522 likely benign not provided criteria provided, single submitter not provided

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