ClinVar Miner

Submissions for variant NM_014625.3(NPHS2):c.538G>A (p.Val180Met) (rs74315347)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516417 SCV000614351 pathogenic not provided 2016-08-16 criteria provided, single submitter clinical testing
OMIM RCV000005699 SCV000025881 pathogenic Nephrotic syndrome, idiopathic, steroid-resistant 2000-04-01 no assertion criteria provided literature only
Counsyl RCV000005699 SCV000220990 pathogenic Nephrotic syndrome, idiopathic, steroid-resistant 2016-08-15 no assertion criteria provided clinical testing
Gharavi Laboratory,Columbia University RCV000516417 SCV000809271 pathogenic not provided 2018-09-16 no assertion criteria provided research

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