ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.22592G>A (p.Ser7531Asn)

gnomAD frequency: 0.00003  dbSNP: rs267599060
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000643853 SCV000765540 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2018-01-04 criteria provided, single submitter clinical testing
GeneDx RCV001555800 SCV001777269 likely benign not provided 2018-11-07 criteria provided, single submitter clinical testing

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