ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.18410C>T (p.Thr6137Met) (rs201462794)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000712384 SCV000842861 uncertain significance not provided 2018-07-20 criteria provided, single submitter clinical testing
Invitae RCV001087485 SCV001020377 likely benign Nemaline myopathy 2 2019-12-31 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV001087485 SCV001423190 not provided Nemaline myopathy 2 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 07-31-2017 by Lab or GTR ID 165021. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Natera, Inc. RCV001087485 SCV001454687 uncertain significance Nemaline myopathy 2 2020-01-24 no assertion criteria provided clinical testing

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