ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.537A>G (p.Gln179=)

gnomAD frequency: 0.00044  dbSNP: rs200417280
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250147 SCV000316497 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000651691 SCV000773545 benign Nephronophthisis 16 2023-12-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000651691 SCV002809396 likely benign Nephronophthisis 16 2021-10-03 criteria provided, single submitter clinical testing

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