ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.876A>G (p.Ser292=)

gnomAD frequency: 0.00001  dbSNP: rs777368543
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002158893 SCV002479573 likely benign Nephronophthisis 2024-07-09 criteria provided, single submitter clinical testing

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