ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.585G>A (p.Leu195=)

gnomAD frequency: 0.00976  dbSNP: rs75634918
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242313 SCV000316498 benign not specified criteria provided, single submitter clinical testing
Invitae RCV000557835 SCV000654423 benign Nephronophthisis 16 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001550983 SCV001771398 likely benign not provided 2020-12-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000557835 SCV003800228 benign Nephronophthisis 16 2022-03-09 criteria provided, single submitter clinical testing

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