ClinVar Miner

Submissions for variant NM_014669.5(NUP93):c.1326del (p.Lys442fs)

dbSNP: rs869320695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000210703 SCV000266817 pathogenic Nephrotic syndrome, type 12 2020-11-20 no assertion criteria provided literature only

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