ClinVar Miner

Submissions for variant NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys)

dbSNP: rs1571892988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002248960 SCV002516210 likely pathogenic Actin accumulation myopathy 2022-05-04 criteria provided, single submitter clinical testing

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