ClinVar Miner

Submissions for variant NM_018834.6(MATR3):c.2454T>C (p.Asn818=)

gnomAD frequency: 0.00004  dbSNP: rs146550337
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Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001452013 SCV001655659 likely benign Amyotrophic lateral sclerosis type 21 2023-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438804 SCV004164231 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing MATR3: BP4, BP7

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