ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.3522C>T (p.Ser1174=)

gnomAD frequency: 0.00045  dbSNP: rs139418084
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000970494 SCV001118072 benign not provided 2023-08-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000970494 SCV004144804 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing LAMA1: BS2

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