ClinVar Miner

Submissions for variant NM_004281.4(BAG3):c.564G>T (p.Leu188=)

gnomAD frequency: 0.00001  dbSNP: rs886046754
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000347320 SCV000360576 uncertain significance Myofibrillar Myopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000394291 SCV000360577 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001423108 SCV001625680 likely benign Myofibrillar myopathy 6; Dilated cardiomyopathy 1HH 2025-01-27 criteria provided, single submitter clinical testing

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