ClinVar Miner

Submissions for variant NM_014425.5(INVS):c.444C>T (p.Asn148=)

gnomAD frequency: 0.00003  dbSNP: rs755575787
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000874804 SCV001017032 likely benign Nephronophthisis 2024-03-03 criteria provided, single submitter clinical testing

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