ClinVar Miner

Submissions for variant NM_000257.4(MYH7):c.5314G>A (p.Glu1772Lys)

dbSNP: rs1326035646
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003333506 SCV004041151 uncertain significance MYH7-related skeletal myopathy 2023-05-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333509 SCV004041155 uncertain significance Myosin storage myopathy 2023-05-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333507 SCV004041341 uncertain significance Hypertrophic cardiomyopathy 1 2023-05-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333508 SCV004041401 uncertain significance Myopathy, myosin storage, autosomal recessive 2023-05-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV003333505 SCV004041424 uncertain significance Dilated cardiomyopathy 1S 2023-05-25 criteria provided, single submitter clinical testing

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