ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.23895C>A (p.Asn7965Lys)

gnomAD frequency: 0.00001  dbSNP: rs1363515138
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000642852 SCV000764539 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003139974 SCV003821084 uncertain significance not provided 2019-04-02 criteria provided, single submitter clinical testing

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