ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.153_167dup (p.52_56LAQPA[3]) (rs757726895)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000712380 SCV000331359 uncertain significance not provided 2016-09-12 criteria provided, single submitter clinical testing
GeneDx RCV000712380 SCV000568028 benign not provided 2020-11-19 criteria provided, single submitter clinical testing
Invitae RCV001082110 SCV000640581 benign Nemaline myopathy 2 2020-12-04 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712380 SCV000842857 likely benign not provided 2017-11-30 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001082110 SCV001737331 likely benign Nemaline myopathy 2 2021-06-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001082110 SCV001458314 likely benign Nemaline myopathy 2 2020-01-06 no assertion criteria provided clinical testing

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