ClinVar Miner

Submissions for variant NM_173551.5(ANKS6):c.658G>A (p.Ala220Thr)

gnomAD frequency: 0.00287  dbSNP: rs200419394
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534014 SCV000654424 benign Nephronophthisis 16 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001644660 SCV001857602 benign not provided 2020-10-02 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001644660 SCV001932074 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001644660 SCV001973604 likely benign not provided no assertion criteria provided clinical testing

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