ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.2964C>T (p.Ala988=)

gnomAD frequency: 0.00003  dbSNP: rs373285520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000351809 SCV000344929 uncertain significance not provided 2017-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001448248 SCV001651331 likely benign Nephronophthisis 2024-06-17 criteria provided, single submitter clinical testing

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