ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.605A>G (p.Asn202Ser)

dbSNP: rs2140648522
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005008500 SCV005637010 likely pathogenic Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-03-07 criteria provided, single submitter clinical testing
Molecular Biology Laboratory, Fundació Puigvert RCV002267598 SCV002549728 likely pathogenic Focal segmental glomerulosclerosis 5 2022-07-21 no assertion criteria provided clinical testing

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