ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.780A>G (p.Pro260=) (rs80255720)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000317234 SCV000417050 uncertain significance Nemaline Myopathy, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000873672 SCV001015711 benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000873672 SCV001457269 likely benign Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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