ClinVar Miner

Submissions for variant NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr)

gnomAD frequency: 0.20323  dbSNP: rs566655
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ClinVar version:
Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990070 SCV001140850 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001519210 SCV001728037 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001519210 SCV001909213 benign not provided 2021-04-13 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000990070 SCV001981228 benign Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001519210 SCV005248329 benign not provided criteria provided, single submitter not provided

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