ClinVar Miner

Submissions for variant NM_152263.4(TPM3):c.831C>T (p.His277=)

gnomAD frequency: 0.00003  dbSNP: rs781032589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000415940 SCV000493382 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001418356 SCV001620582 likely benign Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion 2023-05-02 criteria provided, single submitter clinical testing

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