ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.2109C>T (p.Ala703=)

gnomAD frequency: 0.46872  dbSNP: rs621993
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Minimum conflict level:
ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001519209 SCV001728036 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001519209 SCV001949751 benign not provided 2019-09-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001730803 SCV001981226 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519209 SCV005248327 benign not provided criteria provided, single submitter not provided

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