ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.4599C>T (p.Pro1533=)

gnomAD frequency: 0.00061  dbSNP: rs138240481
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002118287 SCV002439553 benign not provided 2024-11-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002118287 SCV004150809 likely benign not provided 2022-08-01 criteria provided, single submitter clinical testing LAMA5: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV002118287 SCV005310565 benign not provided criteria provided, single submitter not provided

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