ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2265C>T (p.Asn755=)

gnomAD frequency: 0.00001  dbSNP: rs1361987333
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001478550 SCV001682821 likely benign Amyotrophic lateral sclerosis type 21 2022-07-19 criteria provided, single submitter clinical testing

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