ClinVar Miner

Submissions for variant NM_003970.4(MYOM2):c.1426G>A (p.Ala476Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004214150 SCV003706568 uncertain significance not specified 2021-08-17 criteria provided, single submitter clinical testing The c.1426G>A (p.A476T) alteration is located in exon 12 (coding exon 11) of the MYOM2 gene. This alteration results from a G to A substitution at nucleotide position 1426, causing the alanine (A) at amino acid position 476 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV005242360 SCV005890399 likely benign not provided 2025-01-01 criteria provided, single submitter clinical testing MYOM2: BP4

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