ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.1130-5T>A

gnomAD frequency: 0.00033  dbSNP: rs188905656
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519266 SCV001728105 benign Amyotrophic lateral sclerosis type 21 2022-10-20 criteria provided, single submitter clinical testing

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