ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95305G>A (p.Val31769Ile)

gnomAD frequency: 0.00006  dbSNP: rs374445709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246737 SCV000318223 uncertain significance Cardiovascular phenotype 2013-01-29 criteria provided, single submitter clinical testing There is insufficient or conflicting evidence for classification of this alteration.
Invitae RCV000476010 SCV000542920 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-11-14 criteria provided, single submitter clinical testing

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