ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn)

gnomAD frequency: 0.00214  dbSNP: rs148541427
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000543569 SCV000652098 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-21 criteria provided, single submitter clinical testing
GeneDx RCV001697314 SCV000732252 benign not provided 2020-11-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002294349 SCV002587785 likely benign Kidney disorder 2017-04-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001697314 SCV005296670 benign not provided criteria provided, single submitter not provided

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