ClinVar Miner

Submissions for variant NM_005560.6(LAMA5):c.6206C>T (p.Pro2069Leu)

gnomAD frequency: 0.00024  dbSNP: rs201193135
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311994 SCV001502401 uncertain significance not provided 2025-01-01 criteria provided, single submitter clinical testing LAMA5: PM2, BP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001311994 SCV002461610 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing

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