ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.2763A>G (p.Ala921=)

gnomAD frequency: 0.00003  dbSNP: rs754332334
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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 RCV001335998 SCV001529267 uncertain significance Charcot-Marie-Tooth disease type 4B3 2018-11-05 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002070209 SCV002374994 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing

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