ClinVar Miner

Submissions for variant NM_005186.4(CAPN1):c.1942+77C>T

dbSNP: rs625750
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554569 SCV001775823 benign Autosomal recessive spastic paraplegia type 76 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001655900 SCV001866726 benign not provided 2021-05-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655900 SCV005316250 benign not provided criteria provided, single submitter not provided

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