ClinVar Miner

Submissions for variant NM_153240.5(NPHP3):c.1101_1102insATTTTATTATT (p.His368fs)

dbSNP: rs1560014115
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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) RCV000733396 SCV000861462 pathogenic not provided 2018-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005027917 SCV005656460 likely pathogenic Renal-hepatic-pancreatic dysplasia 1; Nephronophthisis 3; NPHP3-related Meckel-like syndrome 2024-05-09 criteria provided, single submitter clinical testing

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