ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.7G>C (p.Glu3Gln)

dbSNP: rs1571456678
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986419 SCV001135418 likely pathogenic Congenital myopathy 4B, autosomal recessive 2019-05-28 criteria provided, single submitter clinical testing

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