ClinVar Miner

Submissions for variant NM_022489.4(INF2):c.391+18A>T

gnomAD frequency: 0.02077  dbSNP: rs115458897
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252520 SCV000314111 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000252520 SCV000522623 benign not specified 2016-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812734 SCV001159588 benign not provided 2023-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512550 SCV001719990 benign Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001812734 SCV005294699 benign not provided criteria provided, single submitter not provided

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