ClinVar Miner

Submissions for variant NM_001100.3(ACTA1):c.82G>C (p.Ala28Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000679904 SCV000807335 uncertain significance Nemaline myopathy 3 2017-09-01 criteria provided, single submitter clinical testing At time of reporting, this mutation was novel. Likely pathogenicity based on de novo finding in a 1-month-old male with arthrogryposis, club feet, hypotonia, absent reflexes, respiratory insufficiency, myopathy

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