ClinVar Miner

Submissions for variant NM_017882.3(CLN6):c.723G>T (p.Met241Ile)

dbSNP: rs149262877
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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 RCV001330791 SCV001522595 uncertain significance Ceroid lipofuscinosis, neuronal, 6A 2019-02-26 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
OMIM RCV001330791 SCV001761667 pathogenic Ceroid lipofuscinosis, neuronal, 6A 2021-12-01 no assertion criteria provided literature only

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