ClinVar Miner

Submissions for variant NM_000231.3(SGCG):c.702+1G>A

dbSNP: rs1555248000
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000671119 SCV005056717 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2024-02-07 criteria provided, single submitter clinical testing
Counsyl RCV000671119 SCV000796064 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C 2017-11-28 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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