ClinVar Miner

Submissions for variant NM_004646.3(NPHS1):c.3562G>A (p.Ala1188Thr) (rs116700257)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669816 SCV000794604 benign Finnish congenital nephrotic syndrome 2017-10-06 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712431 SCV000842924 uncertain significance not provided 2018-07-10 criteria provided, single submitter clinical testing
Invitae RCV000712431 SCV001040801 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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