ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser)

gnomAD frequency: 0.00205  dbSNP: rs148593258
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000402205 SCV000337476 benign not specified 2015-12-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000967474 SCV001114859 likely benign not provided 2024-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000967474 SCV001999137 likely benign not provided 2024-04-24 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
PreventionGenetics, part of Exact Sciences RCV004547691 SCV004761545 likely benign LAMA1-related disorder 2020-09-02 no assertion criteria provided 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).

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