ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.95358C>G (p.Asn31786Lys)

dbSNP: rs869320743
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000119026 SCV000153728 pathogenic Myopathy, myofibrillar, 9, with early respiratory failure 2014-02-27 no assertion criteria provided literature only

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