ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.1917C>T (p.Gly639=)

gnomAD frequency: 0.00004  dbSNP: rs369774566
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002065924 SCV002342945 likely benign Nephronophthisis 16 2024-01-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002065924 SCV005682131 uncertain significance Nephronophthisis 16 2024-02-19 criteria provided, single submitter clinical testing

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