ClinVar Miner

Submissions for variant NM_000426.4(LAMA2):c.122C>T (p.Pro41Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV005000905 SCV005621262 uncertain significance not provided 2024-07-03 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster predict this amino acid change may be damaging to the protein.

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