ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.18224A>C (p.His6075Pro)

gnomAD frequency: 0.00010  dbSNP: rs768813228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876520 SCV001019101 likely benign Nemaline myopathy 2 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549986 SCV004732585 likely benign NEB-related disorder 2022-04-15 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000876520 SCV001454691 uncertain significance Nemaline myopathy 2 2020-01-17 no assertion criteria provided clinical testing

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