ClinVar Miner

Submissions for variant NM_015102.5(NPHP4):c.1124_1125insCC (p.Ser376fs)

dbSNP: rs1570504754
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001029763 SCV001192541 likely pathogenic Nephronophthisis 4 2019-04-05 no assertion criteria provided clinical testing

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