ClinVar Miner

Submissions for variant NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser)

gnomAD frequency: 0.00018  dbSNP: rs121434391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006527 SCV000026710 pathogenic Focal segmental glomerulosclerosis 2 2005-07-01 no assertion criteria provided literature only
Gharavi Laboratory, Columbia University RCV000782220 SCV000920707 likely benign not provided 2018-09-16 no assertion criteria provided research
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV000006527 SCV001192688 uncertain significance Focal segmental glomerulosclerosis 2 2019-03-25 no assertion criteria provided clinical testing

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