ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.1130-4A>G

gnomAD frequency: 0.00027  dbSNP: rs371701183
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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 RCV001510146 SCV001717103 benign Amyotrophic lateral sclerosis type 21 2024-01-18 criteria provided, single submitter clinical testing

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