ClinVar Miner

Submissions for variant NM_003640.5(ELP1):c.650-6G>A

dbSNP: rs571466270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000530797 SCV000626030 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004023741 SCV004864142 uncertain significance not specified 2020-06-15 criteria provided, single submitter clinical testing The c.650-6G>A intronic alteration consists of a G to A substitution 6 nucleotides before coding exon 7 in the IKBKAP gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001271216 SCV001452218 likely benign Familial dysautonomia 2020-04-16 no assertion criteria provided clinical testing

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