ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.92984C>A (p.Thr30995Asn)

gnomAD frequency: 0.00002  dbSNP: rs886042408
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000261958 SCV000333989 uncertain significance not provided 2015-09-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000643335 SCV000765022 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-08-21 criteria provided, single submitter clinical testing

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