ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.993A>G (p.Thr331=)

gnomAD frequency: 0.00001  dbSNP: rs1939961664
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001477898 SCV001682151 likely benign Nephronophthisis 2020-03-03 criteria provided, single submitter clinical testing

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