ClinVar Miner

Submissions for variant NM_006790.3(MYOT):c.1398T>G (p.Leu466=)

gnomAD frequency: 0.00003  dbSNP: rs150033934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000392345 SCV000338249 uncertain significance not provided 2015-12-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001410801 SCV001612852 likely benign Myofibrillar myopathy 3 2023-12-22 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004999228 SCV005621588 benign not specified 2024-05-07 criteria provided, single submitter clinical testing

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