ClinVar Miner

Submissions for variant NM_002972.4(SBF1):c.5110G>A (p.Val1704Met)

gnomAD frequency: 0.00007  dbSNP: rs760339634
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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 RCV002200961 SCV002489662 likely benign not provided 2023-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004047144 SCV004945674 uncertain significance not specified 2022-01-04 criteria provided, single submitter clinical testing The c.5110G>A (p.V1704M) alteration is located in exon 37 (coding exon 37) of the SBF1 gene. This alteration results from a G to A substitution at nucleotide position 5110, causing the valine (V) at amino acid position 1704 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002200961 SCV005207762 likely benign not provided criteria provided, single submitter not provided

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